A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207795



Internal ID22356135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88684236..88686961hg38UCSC Ensembl
chr14:89150580..89153305hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg382726
hg192726
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14418194
SamplesHG00514
Known GenesEML5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207795
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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